We provide results of functional analyses to clinicians and patient families.
CFERV is a national clearing house for information on rare variants in the GRIN, GRIA, GRIK, and GRID genes.
CFERV News Bulletins and Upcoming Events
Upcoming CFERV Events:
GRIN2A Parent Group Conference, June 29, 2017
Child Neurology Society 46th Annual Meeting, Kansas City, MO, Oct 4-7, 2017
The American Society of Human Genetics Annual Meeting, Orlando, FL, Oct 17-21, 2017
Society for Neuroscience 47th Annual Meeting, Washington, D.C. Nov 11-15, 2017
American Epilepsy Society Annual Meeting Washington, DC, Dec 1-5, 2017
Past CFERV Events:
Presentation: "Genetic Variation of NMDA Receptors and Human Disease", Department of Physiology and Neurobiology, University of Connecticut, April 19, 2017
Presentation at: Peking University Pediatric Neurology Forum (PUPNF 2017), April 8-9, 2017 “Recurrent GRIN2D Rare Variants and Early-Onset Epileptic Encephalopathy”
Presentation at: 70th American Epilepsy Society Annual Meeting, Houston, TX, Dec. 02-06, 2016. A GRIN2D Mutation in Transmembrane Domain M3 Associated with Severe Epileptic Encephalopathy. Yuan H, Kosobucki G, Chen W, Schulien A, Tankovic A, Hu C, Kusumoto H, Li D, Ortiz-Gonzalez X, Marsh E, Falk M, Aizeman E, Traynelis SF.
Presentation at: 70th American Epilepsy Society Annual Meeting, Houston, TX, Dec. 02-06, 2016. Molecular Mechanism of a GRIN2A M2 Mutation Associated with Early-Onset Epileptic Encephalopathy and Potential Rescue Pharmacology. Kannan V, Hu C, Kusumoto H, Traynelis SF, Yuan H (2016).
GRIN1 Parent Conference Pittsburgh, PA, June 17, 2017
Presentation at: Annual Meeting of Jilin Association Against Epilepsy, JAAE, China, June 17-18, 2017 “Disease Causing Genetic Variants in Glutamate (NMDA) Receptors in Early-Onset Epileptic Encephalopathy: from Molecular Mechanism to Personalized Therapy”